-
1
-
-
43049119982
-
Serotype-dependent packaging of large genes in adeno-associated viral vectors results in effective gene delivery in mice
-
M. Allocca, M. Doria, M. Petrillo, P. Colella, M. Garcia-Hoyos, D. Gibbs, S.R. Kim, A. Maguire, T.S. Rex, U. Di Vicino, and et al. Serotype-dependent packaging of large genes in adeno-associated viral vectors results in effective gene delivery in mice J. Clin. Invest. 118 2008 1955 1964
-
(2008)
J. Clin. Invest.
, vol.118
, pp. 1955-1964
-
-
Allocca, M.1
Doria, M.2
Petrillo, M.3
Colella, P.4
Garcia-Hoyos, M.5
Gibbs, D.6
Kim, S.R.7
Maguire, A.8
Rex, T.S.9
Di Vicino, U.10
-
2
-
-
0346874342
-
Proteomic characterization of the human centrosome by protein correlation profiling
-
J.S. Andersen, C.J. Wilkinson, T. Mayor, P. Mortensen, E.A. Nigg, and M. Mann Proteomic characterization of the human centrosome by protein correlation profiling Nature 426 2003 570 574
-
(2003)
Nature
, vol.426
, pp. 570-574
-
-
Andersen, J.S.1
Wilkinson, C.J.2
Mayor, T.3
Mortensen, P.4
Nigg, E.A.5
Mann, M.6
-
3
-
-
84899847101
-
Natural history of cone disease in the murine model of Leber congenital amaurosis due to CEP290 mutation: Determining the timing and expectation of therapy
-
S.E. Boye, W.C. Huang, A.J. Roman, A. Sumaroka, S.L. Boye, R.C. Ryals, M.B. Olivares, Q. Ruan, B.A. Tucker, E.M. Stone, and et al. Natural history of cone disease in the murine model of Leber congenital amaurosis due to CEP290 mutation: determining the timing and expectation of therapy PLoS ONE 9 2014 e92928
-
(2014)
PLoS ONE
, vol.9
, pp. e92928
-
-
Boye, S.E.1
Huang, W.C.2
Roman, A.J.3
Sumaroka, A.4
Boye, S.L.5
Ryals, R.C.6
Olivares, M.B.7
Ruan, Q.8
Tucker, B.A.9
Stone, E.M.10
-
4
-
-
84903885678
-
CEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype
-
E.R. Burnight, L.A. Wiley, A.V. Drack, T.A. Braun, K.R. Anfinson, E.E. Kaalberg, J.A. Halder, L.M. Affatigato, R.F. Mullins, E.M. Stone, and B.A. Tucker CEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype Gene Ther. 21 2014 662 672
-
(2014)
Gene Ther.
, vol.21
, pp. 662-672
-
-
Burnight, E.R.1
Wiley, L.A.2
Drack, A.V.3
Braun, T.A.4
Anfinson, K.R.5
Kaalberg, E.E.6
Halder, J.A.7
Affatigato, L.M.8
Mullins, R.F.9
Stone, E.M.10
Tucker, B.A.11
-
5
-
-
77949519072
-
Protective effects of human iPS-derived retinal pigment epithelium cell transplantation in the retinal dystrophic rat
-
A.J. Carr, A.A. Vugler, S.T. Hikita, J.M. Lawrence, C. Gias, L.L. Chen, D.E. Buchholz, A. Ahmado, M. Semo, M.J. Smart, and et al. Protective effects of human iPS-derived retinal pigment epithelium cell transplantation in the retinal dystrophic rat PLoS ONE 4 2009 e8152
-
(2009)
PLoS ONE
, vol.4
, pp. e8152
-
-
Carr, A.J.1
Vugler, A.A.2
Hikita, S.T.3
Lawrence, J.M.4
Gias, C.5
Chen, L.L.6
Buchholz, D.E.7
Ahmado, A.8
Semo, M.9
Smart, M.J.10
-
6
-
-
84947287675
-
Review and update on the molecular basis of Leber congenital amaurosis
-
O.F. Chacon-Camacho, and J.C. Zenteno Review and update on the molecular basis of Leber congenital amaurosis World J. Clin. Cases 3 2015 112 124
-
(2015)
World J. Clin. Cases
, vol.3
, pp. 112-124
-
-
Chacon-Camacho, O.F.1
Zenteno, J.C.2
-
7
-
-
33744757686
-
In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse
-
B. Chang, H. Khanna, N. Hawes, D. Jimeno, S. He, C. Lillo, S.K. Parapuram, H. Cheng, A. Scott, R.E. Hurd, and et al. In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse Hum. Mol. Genet. 15 2006 1847 1857
-
(2006)
Hum. Mol. Genet.
, vol.15
, pp. 1847-1857
-
-
Chang, B.1
Khanna, H.2
Hawes, N.3
Jimeno, D.4
He, S.5
Lillo, C.6
Parapuram, S.K.7
Cheng, H.8
Scott, A.9
Hurd, R.E.10
-
8
-
-
35648970061
-
Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: Implications for therapy of Leber congenital amaurosis
-
A.V. Cideciyan, T.S. Aleman, S.G. Jacobson, H. Khanna, A. Sumaroka, G.K. Aguirre, S.B. Schwartz, E.A. Windsor, S. He, B. Chang, and et al. Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis Hum. Mutat. 28 2007 1074 1083
-
(2007)
Hum. Mutat.
, vol.28
, pp. 1074-1083
-
-
Cideciyan, A.V.1
Aleman, T.S.2
Jacobson, S.G.3
Khanna, H.4
Sumaroka, A.5
Aguirre, G.K.6
Schwartz, S.B.7
Windsor, E.A.8
He, S.9
Chang, B.10
-
9
-
-
84867129125
-
Antisense oligonucleotide (AON)-based therapy for Leber congenital amaurosis caused by a frequent mutation in CEP290
-
R.W. Collin, A.I. den Hollander, S.D. van der Velde-Visser, J. Bennicelli, J. Bennett, and F.P. Cremers Antisense oligonucleotide (AON)-based therapy for Leber congenital amaurosis caused by a frequent mutation in CEP290 Mol. Ther. Nucleic Acids 1 2012 e14
-
(2012)
Mol. Ther. Nucleic Acids
, vol.1
, pp. e14
-
-
Collin, R.W.1
Den Hollander, A.I.2
Van Der Velde-Visser, S.D.3
Bennicelli, J.4
Bennett, J.5
Cremers, F.P.6
-
10
-
-
78149296423
-
CEP290, a gene with many faces: Mutation overview and presentation of CEP290base
-
F. Coppieters, S. Lefever, B.P. Leroy, and E. De Baere CEP290, a gene with many faces: mutation overview and presentation of CEP290base Hum. Mutat. 31 2010 1097 1108
-
(2010)
Hum. Mutat.
, vol.31
, pp. 1097-1108
-
-
Coppieters, F.1
Lefever, S.2
Leroy, B.P.3
De Baere, E.4
-
11
-
-
77956388187
-
CEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content
-
B. Craige, C.C. Tsao, D.R. Diener, Y. Hou, K.F. Lechtreck, J.L. Rosenbaum, and G.B. Witman CEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content J. Cell Biol. 190 2010 927 940
-
(2010)
J. Cell Biol.
, vol.190
, pp. 927-940
-
-
Craige, B.1
Tsao, C.C.2
Diener, D.R.3
Hou, Y.4
Lechtreck, K.F.5
Rosenbaum, J.L.6
Witman, G.B.7
-
12
-
-
33748664605
-
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis
-
A.I. den Hollander, R.K. Koenekoop, S. Yzer, I. Lopez, M.L. Arends, K.E. Voesenek, M.N. Zonneveld, T.M. Strom, T. Meitinger, H.G. Brunner, and et al. Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis Am. J. Hum. Genet. 79 2006 556 561
-
(2006)
Am. J. Hum. Genet.
, vol.79
, pp. 556-561
-
-
Den Hollander, A.I.1
Koenekoop, R.K.2
Yzer, S.3
Lopez, I.4
Arends, M.L.5
Voesenek, K.E.6
Zonneveld, M.N.7
Strom, T.M.8
Meitinger, T.9
Brunner, H.G.10
-
13
-
-
48449085738
-
Leber congenital amaurosis: Genes, proteins and disease mechanisms
-
A.I. den Hollander, R. Roepman, R.K. Koenekoop, and F.P. Cremers Leber congenital amaurosis: genes, proteins and disease mechanisms Prog. Retin. Eye Res. 27 2008 391 419
-
(2008)
Prog. Retin. Eye Res.
, vol.27
, pp. 391-419
-
-
Den Hollander, A.I.1
Roepman, R.2
Koenekoop, R.K.3
Cremers, F.P.4
-
14
-
-
84930808478
-
Basal exon skipping and genetic pleiotropy: A predictive model of disease pathogenesis
-
T.G. Drivas, A.P. Wojno, B.A. Tucker, E.M. Stone, and J. Bennett Basal exon skipping and genetic pleiotropy: a predictive model of disease pathogenesis Sci. Transl. Med. 7 2015 291ra97
-
(2015)
Sci. Transl. Med.
, vol.7
, pp. 291ra97
-
-
Drivas, T.G.1
Wojno, A.P.2
Tucker, B.A.3
Stone, E.M.4
Bennett, J.5
-
15
-
-
84880181531
-
Transcriptome analyses of the human retina identify unprecedented transcript diversity and 3.5 Mb of novel transcribed sequence via significant alternative splicing and novel genes
-
M.H. Farkas, G.R. Grant, J.A. White, M.E. Sousa, M.B. Consugar, and E.A. Pierce Transcriptome analyses of the human retina identify unprecedented transcript diversity and 3.5 Mb of novel transcribed sequence via significant alternative splicing and novel genes BMC Genomics 14 2013 486
-
(2013)
BMC Genomics
, vol.14
, pp. 486
-
-
Farkas, M.H.1
Grant, G.R.2
White, J.A.3
Sousa, M.E.4
Consugar, M.B.5
Pierce, E.A.6
-
16
-
-
84892377709
-
Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosis
-
A. Garanto, S.E. van Beersum, T.A. Peters, R. Roepman, F.P. Cremers, and R.W. Collin Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosis PLoS ONE 8 2013 e79369
-
(2013)
PLoS ONE
, vol.8
, pp. e79369
-
-
Garanto, A.1
Van Beersum, S.E.2
Peters, T.A.3
Roepman, R.4
Cremers, F.P.5
Collin, R.W.6
-
17
-
-
84868356058
-
AON-mediated exon skipping restores ciliation in fibroblasts harboring the common Leber congenital amaurosis CEP290 mutation
-
X. Gerard, I. Perrault, S. Hanein, E. Silva, K. Bigot, S. Defoort-Delhemmes, M. Rio, A. Munnich, D. Scherman, J. Kaplan, and et al. AON-mediated exon skipping restores ciliation in fibroblasts harboring the common Leber congenital amaurosis CEP290 mutation Mol. Ther. Nucleic Acids 1 2012 e29
-
(2012)
Mol. Ther. Nucleic Acids
, vol.1
, pp. e29
-
-
Gerard, X.1
Perrault, I.2
Hanein, S.3
Silva, E.4
Bigot, K.5
Defoort-Delhemmes, S.6
Rio, M.7
Munnich, A.8
Scherman, D.9
Kaplan, J.10
-
18
-
-
84940834150
-
Intravitreal injection of splice-switching oligonucleotides to manipulate splicing in retinal cells
-
X. Gérard, I. Perrault, A. Munnich, J. Kaplan, and J.M. Rozet Intravitreal injection of splice-switching oligonucleotides to manipulate splicing in retinal cells Mol. Ther. Nucleic Acids 4 2015 e250
-
(2015)
Mol. Ther. Nucleic Acids
, vol.4
, pp. e250
-
-
Gérard, X.1
Perrault, I.2
Munnich, A.3
Kaplan, J.4
Rozet, J.M.5
-
19
-
-
56049117628
-
CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium
-
J. Kim, S.R. Krishnaswami, and J.G. Gleeson CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium Hum. Mol. Genet. 17 2008 3796 3805
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 3796-3805
-
-
Kim, J.1
Krishnaswami, S.R.2
Gleeson, J.G.3
-
20
-
-
0032816282
-
RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa
-
R. Kirschner, T. Rosenberg, R. Schultz-Heienbrok, S. Lenzner, S. Feil, R. Roepman, F.P. Cremers, H.H. Ropers, and W. Berger RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa Hum. Mol. Genet. 8 1999 1571 1578
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 1571-1578
-
-
Kirschner, R.1
Rosenberg, T.2
Schultz-Heienbrok, R.3
Lenzner, S.4
Feil, S.5
Roepman, R.6
Cremers, F.P.7
Ropers, H.H.8
Berger, W.9
-
21
-
-
3042651223
-
An overview of Leber congenital amaurosis: A model to understand human retinal development
-
R.K. Koenekoop An overview of Leber congenital amaurosis: a model to understand human retinal development Surv. Ophthalmol. 49 2004 379 398
-
(2004)
Surv. Ophthalmol.
, vol.49
, pp. 379-398
-
-
Koenekoop, R.K.1
-
22
-
-
0032500293
-
First "antisense" drug will treat CMV retinitis
-
C. Marwick First "antisense" drug will treat CMV retinitis JAMA 280 1998 871
-
(1998)
JAMA
, vol.280
, pp. 871
-
-
Marwick, C.1
-
23
-
-
34548356698
-
Mutation in CEP290 discovered for cat model of human retinal degeneration
-
M. Menotti-Raymond, V.A. David, A.A. Schäffer, R. Stephens, D. Wells, R. Kumar-Singh, S.J. O'Brien, and K. Narfström Mutation in CEP290 discovered for cat model of human retinal degeneration J. Hered. 98 2007 211 220
-
(2007)
J. Hered.
, vol.98
, pp. 211-220
-
-
Menotti-Raymond, M.1
David, V.A.2
Schäffer, A.A.3
Stephens, R.4
Wells, D.5
Kumar-Singh, R.6
O'Brien, S.J.7
Narfström, K.8
-
24
-
-
84929206776
-
Alternative splicing shapes the phenotype of a mutation in BBS8 to cause nonsyndromic retinitis pigmentosa
-
D. Murphy, R. Singh, S. Kolandaivelu, V. Ramamurthy, and P. Stoilov Alternative splicing shapes the phenotype of a mutation in BBS8 to cause nonsyndromic retinitis pigmentosa Mol. Cell. Biol. 35 2015 1860 1870
-
(2015)
Mol. Cell. Biol.
, vol.35
, pp. 1860-1870
-
-
Murphy, D.1
Singh, R.2
Kolandaivelu, S.3
Ramamurthy, V.4
Stoilov, P.5
-
25
-
-
84943553768
-
Allele-specific inhibition of rhodopsin with an antisense oligonucleotide slows photoreceptor cell degeneration
-
S.F. Murray, A. Jazayeri, M.T. Matthes, D. Yasumura, H. Yang, R. Peralta, A. Watt, S. Freier, G. Hung, P.S. Adamson, and et al. Allele-specific inhibition of rhodopsin with an antisense oligonucleotide slows photoreceptor cell degeneration Invest. Ophthalmol. Vis. Sci. 56 2015 6362 6375
-
(2015)
Invest. Ophthalmol. Vis. Sci.
, vol.56
, pp. 6362-6375
-
-
Murray, S.F.1
Jazayeri, A.2
Matthes, M.T.3
Yasumura, D.4
Yang, H.5
Peralta, R.6
Watt, A.7
Freier, S.8
Hung, G.9
Adamson, P.S.10
-
26
-
-
84862526635
-
Self-formation of optic cups and storable stratified neural retina from human ESCs
-
T. Nakano, S. Ando, N. Takata, M. Kawada, K. Muguruma, K. Sekiguchi, K. Saito, S. Yonemura, M. Eiraku, and Y. Sasai Self-formation of optic cups and storable stratified neural retina from human ESCs Cell Stem Cell 10 2012 771 785
-
(2012)
Cell Stem Cell
, vol.10
, pp. 771-785
-
-
Nakano, T.1
Ando, S.2
Takata, N.3
Kawada, M.4
Muguruma, K.5
Sekiguchi, K.6
Saito, K.7
Yonemura, S.8
Eiraku, M.9
Sasai, Y.10
-
27
-
-
79955634826
-
A more efficient method to generate integration-free human iPS cells
-
K. Okita, Y. Matsumura, Y. Sato, A. Okada, A. Morizane, S. Okamoto, H. Hong, M. Nakagawa, K. Tanabe, K. Tezuka, and et al. A more efficient method to generate integration-free human iPS cells Nat. Methods 8 2011 409 412
-
(2011)
Nat. Methods
, vol.8
, pp. 409-412
-
-
Okita, K.1
Matsumura, Y.2
Sato, Y.3
Okada, A.4
Morizane, A.5
Okamoto, S.6
Hong, H.7
Nakagawa, M.8
Tanabe, K.9
Tezuka, K.10
-
28
-
-
77952495178
-
Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis
-
S. Pasadhika, G.A. Fishman, E.M. Stone, M. Lindeman, R. Zelkha, I. Lopez, R.K. Koenekoop, and M. Shahidi Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis Invest. Ophthalmol. Vis. Sci. 51 2010 2608 2614
-
(2010)
Invest. Ophthalmol. Vis. Sci.
, vol.51
, pp. 2608-2614
-
-
Pasadhika, S.1
Fishman, G.A.2
Stone, E.M.3
Lindeman, M.4
Zelkha, R.5
Lopez, I.6
Koenekoop, R.K.7
Shahidi, M.8
-
29
-
-
84863327175
-
The base of the cilium: Roles for transition fibres and the transition zone in ciliary formation, maintenance and compartmentalization
-
J.F. Reiter, O.E. Blacque, and M.R. Leroux The base of the cilium: roles for transition fibres and the transition zone in ciliary formation, maintenance and compartmentalization EMBO Rep. 13 2012 608 618
-
(2012)
EMBO Rep.
, vol.13
, pp. 608-618
-
-
Reiter, J.F.1
Blacque, O.E.2
Leroux, M.R.3
-
30
-
-
79955808192
-
Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways
-
L. Sang, J.J. Miller, K.C. Corbit, R.H. Giles, M.J. Brauer, E.A. Otto, L.M. Baye, X. Wen, S.J. Scales, M. Kwong, and et al. Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways Cell 145 2011 513 528
-
(2011)
Cell
, vol.145
, pp. 513-528
-
-
Sang, L.1
Miller, J.J.2
Corbit, K.C.3
Giles, R.H.4
Brauer, M.J.5
Otto, E.A.6
Baye, L.M.7
Wen, X.8
Scales, S.J.9
Kwong, M.10
-
31
-
-
33745230448
-
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4
-
J.A. Sayer, E.A. Otto, J.F. O'Toole, G. Nurnberg, M.A. Kennedy, C. Becker, H.C. Hennies, J. Helou, M. Attanasio, B.V. Fausett, and et al. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4 Nat. Genet. 38 2006 674 681
-
(2006)
Nat. Genet.
, vol.38
, pp. 674-681
-
-
Sayer, J.A.1
Otto, E.A.2
O'Toole, J.F.3
Nurnberg, G.4
Kennedy, M.A.5
Becker, C.6
Hennies, H.C.7
Helou, J.8
Attanasio, M.9
Fausett, B.V.10
-
32
-
-
84922471648
-
Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells
-
N. Schwarz, A.J. Carr, A. Lane, F. Moeller, L.L. Chen, M. Aguilà, B. Nommiste, M.N. Muthiah, N. Kanuga, U. Wolfrum, and et al. Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells Hum. Mol. Genet. 24 2015 972 986
-
(2015)
Hum. Mol. Genet.
, vol.24
, pp. 972-986
-
-
Schwarz, N.1
Carr, A.J.2
Lane, A.3
Moeller, F.4
Chen, L.L.5
Aguilà, M.6
Nommiste, B.7
Muthiah, M.N.8
Kanuga, N.9
Wolfrum, U.10
-
33
-
-
48549102438
-
CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease
-
W.Y. Tsang, C. Bossard, H. Khanna, J. Peränen, A. Swaroop, V. Malhotra, and B.D. Dynlacht CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease Dev. Cell 15 2008 187 197
-
(2008)
Dev. Cell
, vol.15
, pp. 187-197
-
-
Tsang, W.Y.1
Bossard, C.2
Khanna, H.3
Peränen, J.4
Swaroop, A.5
Malhotra, V.6
Dynlacht, B.D.7
-
34
-
-
84947290073
-
A qPCR ScoreCard quantifies the differentiation potential of human pluripotent stem cells
-
A.M. Tsankov, V. Akopian, R. Pop, S. Chetty, C.A. Gifford, L. Daheron, N.M. Tsankova, and A. Meissner A qPCR ScoreCard quantifies the differentiation potential of human pluripotent stem cells Nat. Biotechnol. 33 2015 1182 1192
-
(2015)
Nat. Biotechnol.
, vol.33
, pp. 1182-1192
-
-
Tsankov, A.M.1
Akopian, V.2
Pop, R.3
Chetty, S.4
Gifford, C.A.5
Daheron, L.6
Tsankova, N.M.7
Meissner, A.8
-
35
-
-
33745225873
-
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome
-
E.M. Valente, J.L. Silhavy, F. Brancati, G. Barrano, S.R. Krishnaswami, M. Castori, M.A. Lancaster, E. Boltshauser, L. Boccone, L. Al-Gazali, et al. International Joubert Syndrome Related Disorders Study Group Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome Nat. Genet. 38 2006 623 625
-
(2006)
Nat. Genet.
, vol.38
, pp. 623-625
-
-
Valente, E.M.1
Silhavy, J.L.2
Brancati, F.3
Barrano, G.4
Krishnaswami, S.R.5
Castori, M.6
Lancaster, M.A.7
Boltshauser, E.8
Boccone, L.9
Al-Gazali, L.10
-
36
-
-
56349103166
-
Elucidating the phenomenon of HESC-derived RPE: Anatomy of cell genesis, expansion and retinal transplantation
-
A. Vugler, A.J. Carr, J. Lawrence, L.L. Chen, K. Burrell, A. Wright, P. Lundh, M. Semo, A. Ahmado, C. Gias, and et al. Elucidating the phenomenon of HESC-derived RPE: anatomy of cell genesis, expansion and retinal transplantation Exp. Neurol. 214 2008 347 361
-
(2008)
Exp. Neurol.
, vol.214
, pp. 347-361
-
-
Vugler, A.1
Carr, A.J.2
Lawrence, J.3
Chen, L.L.4
Burrell, K.5
Wright, A.6
Lundh, P.7
Semo, M.8
Ahmado, A.9
Gias, C.10
-
37
-
-
84865063293
-
Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)
-
T.R. Webb, D.A. Parfitt, J.C. Gardner, A. Martinez, D. Bevilacqua, A.E. Davidson, I. Zito, D.L. Thiselton, J.H. Ressa, M. Apergi, and et al. Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23) Hum. Mol. Genet. 21 2012 3647 3654
-
(2012)
Hum. Mol. Genet.
, vol.21
, pp. 3647-3654
-
-
Webb, T.R.1
Parfitt, D.A.2
Gardner, J.C.3
Martinez, A.4
Bevilacqua, D.5
Davidson, A.E.6
Zito, I.7
Thiselton, D.L.8
Ressa, J.H.9
Apergi, M.10
-
38
-
-
84938681395
-
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes
-
University of Washington Center for Mendelian Genomics
-
G. Wheway, M. Schmidts, D.A. Mans, K. Szymanska, T.M. Nguyen, H. Racher, I.G. Phelps, G. Toedt, J. Kennedy, K.A. Wunderlich, et al. UK10K Consortium University of Washington Center for Mendelian Genomics An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes Nat. Cell Biol. 17 2015 1074 1087
-
(2015)
Nat. Cell Biol.
, vol.17
, pp. 1074-1087
-
-
Wheway, G.1
Schmidts, M.2
Mans, D.A.3
Szymanska, K.4
Nguyen, T.M.5
Racher, H.6
Phelps, I.G.7
Toedt, G.8
Kennedy, J.9
Wunderlich, K.A.10
-
40
-
-
84902303813
-
Generation of three-dimensional retinal tissue with functional photoreceptors from human iPSCs
-
X. Zhong, C. Gutierrez, T. Xue, C. Hampton, M.N. Vergara, L.H. Cao, A. Peters, T.S. Park, E.T. Zambidis, J.S. Meyer, and et al. Generation of three-dimensional retinal tissue with functional photoreceptors from human iPSCs Nat. Commun. 5 2014 4047
-
(2014)
Nat. Commun.
, vol.5
, pp. 4047
-
-
Zhong, X.1
Gutierrez, C.2
Xue, T.3
Hampton, C.4
Vergara, M.N.5
Cao, L.H.6
Peters, A.7
Park, T.S.8
Zambidis, E.T.9
Meyer, J.S.10
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